Genes associated with “FXTAS”
How are genes scored? (0–100 composite)
Strong Candidates
1 geneConsider
4 genesFRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS
Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties
gamma-aminobutyric acid type A receptor subunit alpha1
?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
Possible
22 genes — click to expand
Neuronal intranuclear inclusion disease
gamma-aminobutyric acid type A receptor subunit beta1
CUGBP- AND ELAV-LIKE FAMILY, MEMBER 1; CELF1
peripheral myelin protein 22
glutamate metabotropic receptor 1
hypoxanthine phosphoribosyltransferase 1
gamma-aminobutyric acid type A receptor subunit alpha5
gamma-aminobutyric acid type A receptor subunit beta2
gamma-aminobutyric acid type A receptor subunit beta3
gamma-aminobutyric acid type A receptor subunit gamma2
ATPase plasma membrane Ca2+ transporting 2
potassium calcium-activated channel subfamily M alpha 1
spectrin beta, non-erythrocytic 4
prosaposin
NPC intracellular cholesterol transporter 1
sodium voltage-gated channel alpha subunit 8
reelin
dopa decarboxylase
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.